Incidental Mutation 'R5473:Or5d38'
ID 433910
Institutional Source Beutler Lab
Gene Symbol Or5d38
Ensembl Gene ENSMUSG00000101078
Gene Name olfactory receptor family 5 subfamily D member 38
Synonyms GA_x6K02T2Q125-49616865-49615915, MOR174-6, Olfr1166
MMRRC Submission 043034-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R5473 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 87953704-87955337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87954981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 116 (M116K)
Ref Sequence ENSEMBL: ENSMUSP00000149099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099833] [ENSMUST00000217575]
AlphaFold Q7TR27
Predicted Effect possibly damaging
Transcript: ENSMUST00000099833
AA Change: M116K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097421
Gene: ENSMUSG00000101078
AA Change: M116K

DomainStartEndE-ValueType
Pfam:7tm_4 33 310 6e-51 PFAM
Pfam:7tm_1 43 292 3e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217575
AA Change: M116K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T C 7: 119,312,173 (GRCm39) Y549H probably damaging Het
Adamtsl4 G T 3: 95,587,303 (GRCm39) Q758K probably damaging Het
Anapc1 G T 2: 128,449,115 (GRCm39) probably benign Het
Ankrd26 A T 6: 118,492,797 (GRCm39) C1316S probably benign Het
Birc5 T C 11: 117,743,533 (GRCm39) V89A possibly damaging Het
Camk2d G T 3: 126,391,048 (GRCm39) probably benign Het
Ccdc47 A T 11: 106,095,855 (GRCm39) S280R probably damaging Het
Cntnap5a T A 1: 116,016,986 (GRCm39) F193Y probably benign Het
Cntrob G T 11: 69,213,579 (GRCm39) D70E possibly damaging Het
Col24a1 A C 3: 145,243,016 (GRCm39) M1519L probably benign Het
Col2a1 G T 15: 97,885,370 (GRCm39) A491D unknown Het
Crat A G 2: 30,297,726 (GRCm39) L266P probably damaging Het
Dlgap1 A T 17: 70,824,025 (GRCm39) probably benign Het
Dnaaf10 T C 11: 17,174,591 (GRCm39) V153A probably damaging Het
Eya4 T A 10: 23,039,351 (GRCm39) H104L probably benign Het
Fam83b T C 9: 76,398,782 (GRCm39) K774E probably damaging Het
Fgd6 T C 10: 93,880,538 (GRCm39) I464T probably benign Het
Gorasp2 A C 2: 70,508,950 (GRCm39) M123L probably damaging Het
H2-M10.3 A T 17: 36,678,261 (GRCm39) V188E probably damaging Het
Hnrnpk A T 13: 58,541,913 (GRCm39) W333R probably damaging Het
Hrh4 T C 18: 13,154,985 (GRCm39) Y175H probably benign Het
Igf2r G T 17: 12,914,201 (GRCm39) T1756K probably benign Het
Kcnq5 A G 1: 21,527,626 (GRCm39) probably null Het
Kiz G T 2: 146,811,915 (GRCm39) E675* probably null Het
Mcm3ap T G 10: 76,338,593 (GRCm39) L1407R probably damaging Het
Mdc1 A G 17: 36,158,952 (GRCm39) D444G probably benign Het
Myl3 C A 9: 110,597,026 (GRCm39) H129N probably damaging Het
Neo1 T C 9: 58,788,126 (GRCm39) N1309S possibly damaging Het
Nrxn1 A T 17: 90,897,520 (GRCm39) Y269N probably damaging Het
Nsd1 A G 13: 55,395,585 (GRCm39) N1165S probably damaging Het
Nuf2 T C 1: 169,334,856 (GRCm39) D302G probably benign Het
Olfr908 A G 9: 38,427,508 (GRCm39) Y60C probably damaging Het
Or10j3 G C 1: 173,031,732 (GRCm39) G270R probably benign Het
Or14j1 T C 17: 38,146,630 (GRCm39) F247L probably benign Het
Oxsm A T 14: 16,242,045 (GRCm38) S241R probably damaging Het
Pde1a G T 2: 79,736,372 (GRCm39) S87R probably damaging Het
Plagl2 A T 2: 153,074,114 (GRCm39) C262* probably null Het
Plcg2 A G 8: 118,361,140 (GRCm39) K1233R probably benign Het
Pon3 A T 6: 5,256,177 (GRCm39) I17K possibly damaging Het
Ppfia1 A T 7: 144,045,229 (GRCm39) M951K probably benign Het
Pramel12 A G 4: 143,145,874 (GRCm39) R448G probably damaging Het
Prpf31 A G 7: 3,642,824 (GRCm39) K438E probably benign Het
Pum3 C A 19: 27,396,248 (GRCm39) V328F probably damaging Het
Ralgapa1 T C 12: 55,723,495 (GRCm39) E1677G probably benign Het
Rpf2 A G 10: 40,103,627 (GRCm39) V96A possibly damaging Het
Rsrc2 C T 5: 123,869,150 (GRCm39) A98T probably damaging Het
Saraf G A 8: 34,628,412 (GRCm39) R86Q probably damaging Het
Scara5 T A 14: 65,977,788 (GRCm39) D349E possibly damaging Het
Slc30a1 T C 1: 191,641,734 (GRCm39) V460A possibly damaging Het
Tdrd7 G T 4: 46,020,877 (GRCm39) V768L possibly damaging Het
Tshz2 T C 2: 169,725,718 (GRCm39) S105P probably benign Het
Ufsp2 A G 8: 46,445,258 (GRCm39) I362M probably damaging Het
Ugt1a7c T A 1: 88,023,159 (GRCm39) I106K probably benign Het
Zdhhc5 A G 2: 84,520,810 (GRCm39) Y456H probably damaging Het
Other mutations in Or5d38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Or5d38 APN 2 87,955,023 (GRCm39) missense probably damaging 1.00
R1037:Or5d38 UTSW 2 87,954,573 (GRCm39) missense probably damaging 0.97
R1452:Or5d38 UTSW 2 87,954,655 (GRCm39) missense probably benign 0.01
R1842:Or5d38 UTSW 2 87,954,471 (GRCm39) missense probably damaging 1.00
R2005:Or5d38 UTSW 2 87,954,891 (GRCm39) missense probably damaging 1.00
R4106:Or5d38 UTSW 2 87,954,817 (GRCm39) missense possibly damaging 0.67
R4930:Or5d38 UTSW 2 87,954,684 (GRCm39) missense probably benign 0.08
R5911:Or5d38 UTSW 2 87,955,027 (GRCm39) missense probably benign
R6596:Or5d38 UTSW 2 87,954,543 (GRCm39) missense probably damaging 1.00
R7842:Or5d38 UTSW 2 87,955,330 (GRCm39) start gained probably benign
R8902:Or5d38 UTSW 2 87,954,778 (GRCm39) missense probably damaging 1.00
R8943:Or5d38 UTSW 2 87,954,718 (GRCm39) missense probably damaging 0.98
R9120:Or5d38 UTSW 2 87,955,123 (GRCm39) missense probably damaging 1.00
R9240:Or5d38 UTSW 2 87,955,231 (GRCm39) missense probably benign 0.26
R9733:Or5d38 UTSW 2 87,955,000 (GRCm39) missense probably damaging 0.99
R9783:Or5d38 UTSW 2 87,954,610 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AGCCAAAGTGATTGATGATGCC -3'
(R):5'- GGAACCTGGGCATACTTGTG -3'

Sequencing Primer
(F):5'- GCCATATTCACAATAGGAGAGTTGC -3'
(R):5'- ACCTGGGCATACTTGTGGTTATAAAG -3'
Posted On 2016-10-06